Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23739 | chr7 | 50327643 | G | A |
c.46G>A
|
p.Glu16Lys
|
3.0 |
|
B | ||
| 5032 | chr7 | 50327661 | G | A |
c.64G>A
|
p.Asp22Asn
|
3.0 |
|
B | ||
| 27253 | chr7 | 50327679 | G | A |
c.82G>A
|
p.Asp28Asn
|
3.0 |
|
B | ||
| 9128 | chr7 | 50327700 | G | T |
c.103G>T
|
p.Glu35Ter
|
- | 4.0 |
|
B | |
| 4598 | chr7 | 50327719 | C | T |
c.122C>T
|
p.Ser41Leu
|
3.0 |
|
B | ||
| 25584 | chr7 | 50368066 | G | A |
c.161-8467G>A
|
-
|
3.5 |
|
B | ||
| 32494 | chr7 | 50368159 | G | A |
c.161-8374G>A
|
-
|
- | 3.0 |
|
B | |
| 4393 | chr7 | 50368332 | C | T |
c.161-8201C>T
|
-
|
3.0 |
|
B | ||
| 7061 | chr7 | 50376574 | G | C |
c.202G>C
|
p.Gly68Arg
|
- | 3.0 |
|
B | |
| 35682 | chr7 | 50376619 | C | T |
c.247C>T
|
p.Arg83Ter
|
- | 4.0 |
|
B | |
| 12172 | chr7 | 50376646 | A | T |
c.274A>T
|
p.Met92Leu
|
- | 3.0 |
|
B | |
| 308 | chr7 | 50376795 | T | G |
c.421+2T>G
|
p.?
|
- | 4.33 |
|
A | |
| 25684 | chr7 | 50376798 | G | T |
c.421+5G>T
|
-
|
- | 3.0 |
|
B | |
| 18626 | chr7 | 50376808 | A | C |
c.421+15A>C
|
-
|
- | 3.0 |
|
B | |
| 14127 | chr7 | 50382615 | T | C |
c.497T>C
|
p.Leu166Pro
|
- | 3.0 |
|
B | |
| 34379 | chr7 | 50382624 | G | C |
c.506G>C
|
p.Gly169Ala
|
- | 3.0 |
|
B | |
| 20027 | chr7 | 50382653 | A | G |
c.535A>G
|
p.Asn179Asp
|
- | 3.0 |
|
B | |
| 10417 | chr7 | 50382665 | C | T |
c.547C>T
|
p.Arg183Cys
|
3.0 |
|
B | ||
| 18787 | chr7 | 50382672 | G | A |
c.554G>A
|
p.Arg185Lys
|
- | 3.0 |
|
B | |
| 33180 | chr7 | 50382715 | C | A |
c.589+8C>A
|
-
|
3.0 |
|
B |